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About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… In 2003, an accurate and complete human genome sequence was finished and made available to … scientists and researchers two years ahead of the original Human Genome Project schedule and at a cost less than the … effort to sequence the 3 billion DNA letters in the human genome is considered by many to be one of the most …
Human Genome Project
Video testimonials from prominent members of the genomics community commemorating and celebrating the 30th anniversary of the launch of the Human Genome Project.
… Human Genome Project 30th Anniversary Video Selfie … 1, 2020, marks the 30th anniversary of the launch of the Human Genome Project. Prominent members of the genomics … and celebrating the 30th anniversary of the launch of the Human Genome Project. … Human Genome Project …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… of funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National … (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of … Nir Hacohen, Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), the …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… work is automatically accomplished by computers - with no human interpretation or bias - and takes about three hours … genes. … The UDP is part of the Undiagnosed Diseases Network , which brings together clinical and … physician in the Office of the Clinical Director, National Human Genome Research Institute. "The toolset we developed …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… study, carried out by scientists at the National Human Genome Research Institute (NHGRI), part of the National … by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … pathogens. This evolutionary battle is between the human immune system and microorganisms trying to invade our …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … Anastasia Wise, Ph.D., a program director at the National Human Genome Research Institute (NHGRI), a part of NIH. "The … fly to study the gene variant in question. They add a human gene variant or turn off the gene activity of a similar …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences to large …  A very small subset of genomic variants contributes to human health and disease.  Researchers create reference … health. In some cases, genomic variants directly cause diseases (such as in cystic fibrosis and sickle cell …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… manifestations associated with Gaucher disease. Diseases. 2;5(1). pii: E10. doi: 10.3390/diseases5010010. …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… said Eric D. Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), where the lead … senior author and staff scientist in NHGRI's Inflammatory Diseases Section. The Israeli researchers, whose study is … study expands what has previously been known about vascular biology, and it is truly gratifying to be among two …